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Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

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Abstract

The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position. The transcript of the gene is expressed in the phagocytic lineage of haematopoietic cells and is absent or structurally abnormal in four patients with the disorder. The nucleotide sequence of complementary DNA clones predicts a polypeptide of at least 468 amino acids with no homology to proteins described previously.

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Authors and Affiliations

  1. Division of Hematology-Oncology, The Children's Hospital, Dana-Farber Cancer Institute, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, 02115, USA

    Brigitte Royer-Pokora, Sabra C. Goff, Robert L. Baehner & Stuart H. Orkin

  2. Division of Genetics, The Children's Hospital, Department of Pediatrics and the Program in Neuroscience, Harvard Medical School, Boston, Massachusetts, 02115, USA

    Louis M. Kunkel & Anthony P. Monaco

  3. Division of Cell Biology, The Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, 02115, USA

    F. Sessions Cole

  4. Division of Pediatric Hematology, Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, 01605, USA

    Peter E. Newburger

  5. Division of Pediatric Hematology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, 48109, USA

    John T. Curnutte

  6. Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, 02115, USA

    Stuart H. Orkin

Authors
  1. Brigitte Royer-Pokora
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  2. Louis M. Kunkel
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  3. Anthony P. Monaco
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  4. Sabra C. Goff
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  5. Peter E. Newburger
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  6. Robert L. Baehner
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  7. F. Sessions Cole
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  8. John T. Curnutte
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  9. Stuart H. Orkin
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Royer-Pokora, B., Kunkel, L., Monaco, A. et al. Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location. Nature 322, 32–38 (1986). https://doi.org/10.1038/322032a0

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  • DOI: https://doi.org/10.1038/322032a0

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